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Literature summary extracted from
- Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat (2006), J. Clin. Invest., 116, 395-404.
Application
| EC Number | Application | Comment | Organism |
|---|---|---|---|
| 5.4.99.7 | medicine | since the Shumiya cataract rat model represents a new example of hereditary cholesterol deficiency-associated cataracts, it should be useful in the development of therapeutic and/or preventive measures for cataracts | Rattus norvegicus |
Cloned(Commentary)
| EC Number | Cloned (Comment) | Organism |
|---|---|---|
| 5.4.99.7 | expression in Saccharomyces cerevisiae | Rattus norvegicus |
Protein Variants
| EC Number | Protein Variants | Comment | Organism |
|---|---|---|---|
| 5.4.99.7 | D139N | reduced activity | Rattus norvegicus |
| 5.4.99.7 | D139N/G189A/Q481R | induces cataracts in rats, produces only 39% of the lanosterol produced by wild-type | Rattus norvegicus |
| 5.4.99.7 | H469-C472del | deletion allele, inactive | Rattus norvegicus |
Localization
| EC Number | Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|---|
| 5.4.99.7 | microsome | - |
Rattus norvegicus | - |
- |
Natural Substrates/ Products (Substrates)
| EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 5.4.99.7 | (S)-2,3-epoxysqualene | Rattus norvegicus | - |
lanosterol | - |
? |  |
Organism
| EC Number | Organism | UniProt | Comment | Textmining |
|---|---|---|---|---|
| 5.4.99.7 | Rattus norvegicus | P48450 | Shumiya cataract rat | - |
Source Tissue
| EC Number | Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|---|
| 5.4.99.7 | lens | - |
Rattus norvegicus | - |
| 5.4.99.7 | liver | - |
Rattus norvegicus | - |
Specific Activity [micromol/min/mg]
| EC Number | Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
|---|---|---|---|---|
| 5.4.99.7 | 0.0000429 | - |
cataractous Shumiya cataract rat | Rattus norvegicus |
| 5.4.99.7 | 0.000046 | - |
normal Shumiya cataract rat | Rattus norvegicus |
Substrates and Products (Substrate)
| EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 5.4.99.7 | (S)-2,3-epoxysqualene | - |
Rattus norvegicus | lanosterol | - |
? | |
| 5.4.99.7 | 2,3-oxidosqualene | - |
Rattus norvegicus | lanosterol | - |
? | |
Synonyms
| EC Number | Synonyms | Comment | Organism |
|---|---|---|---|
| 5.4.99.7 | lanosterol synthase | - |
Rattus norvegicus |
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Release 2023.1 (January 2023)
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